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- NCIT_C172095 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the FBXL4 gene, encoding F-box and leucine rich repeat protein 4. It is characterized by early-onset lactic acidosis, growth failure, encephalopathy, hypotonia, and developmental delay." @default.
- NCIT_C172095 NCIT_NHC0 "C172095" @default.
- NCIT_C172095 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C172095 NCIT_P108 "Mitochondrial DNA Depletion Syndrome 13" @default.
- NCIT_C172095 NCIT_P208 "CL1406224" @default.
- NCIT_C172095 NCIT_P322 "Cellosaurus" @default.
- NCIT_C172095 NCIT_R176 NCIT_C16612 @default.
- NCIT_C172095 NCIT_R176 NCIT_C172117 @default.
- NCIT_C172095 NCIT_R176 NCIT_C20194 @default.
- NCIT_C172095 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C172095 referenceCount "3" @default.
- NCIT_C172095 hasExactSynonym "MTDPS13" @default.
- NCIT_C172095 hasExactSynonym "Mitochondrial DNA Depletion Syndrome 13" @default.
- NCIT_C172095 inSubset NCIT_C165258 @default.
- NCIT_C172095 inSubset NCIT_C192842 @default.
- NCIT_C172095 type Class @default.
- NCIT_C172095 isDefinedBy ncit.owl @default.
- NCIT_C172095 label "Mitochondrial DNA Depletion Syndrome 13" @default.
- NCIT_C172095 subClassOf B4bfacfcaab71ce3d3d91de0cc0947592 @default.
- NCIT_C172095 subClassOf B7b8f891f4190173a995f1ceb79fd19b6 @default.
- NCIT_C172095 subClassOf NCIT_C172095 @default.
- NCIT_C172095 subClassOf NCIT_C185235 @default.
- NCIT_C172095 subClassOf NCIT_C2991 @default.
- NCIT_C172095 subClassOf NCIT_C3235 @default.
- NCIT_C172095 subClassOf NCIT_C34816 @default.
- NCIT_C172095 subClassOf NCIT_C4873 @default.
- NCIT_C172095 subClassOf NCIT_C53529 @default.
- NCIT_C172095 subClassOf NCIT_C53543 @default.
- NCIT_C172095 subClassOf NCIT_C53547 @default.
- NCIT_C172095 subClassOf NCIT_C7057 @default.